Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa

Cytokine

Volumn 62, Issue 2, 2013, Pages 297-301

  Giatrakos, Sophia ^a   Huse, Klaus ^b   Kanni, Theodora ^a   Tzanetakou, Vassiliki ^a   Kramer, Marcel ^b,e   Grech, Ioanna ^c   Papadavid, Evangelia ^a   Katoulis, Alexandros ^a   Stavrianeas, Nikolaos ^a   Nothnagel, Michael ^d   Platzer, Matthias ^b   Bauer, Michael ^e   Giamarellos Bourboulis, Evangelos J ^a,e  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b FRITZ LIPMANN INSTITUTE   (Germany)

^c UNIVERSITY OF WEST ATTICA   (Greece)

^d UNIVERSITY OF KIEL   (Germany)

^e JENA UNIVERSITY HOSPITAL   (Germany)

Author keywords

Hidradenitis suppurativa; Hurley III stage; IL12RB1; Intrleukin 12; Single nucleotide polymorphism

Indexed keywords

GENOMIC DNA; INTERLEUKIN 12 RECEPTOR BETA1;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HUMAN; INTERLEUKIN 12 RECEPTOR BETA1 GENE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SUPPURATIVE HIDRADENITIS; ALLELE; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; NUCLEOTIDE SEQUENCE;

ADULT; ALLELES; BASE SEQUENCE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HIDRADENITIS SUPPURATIVA; HUMANS; INTERLEUKIN-12 RECEPTOR BETA 1 SUBUNIT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84876803915     PISSN: 10434666     EISSN: 10960023     Source Type: Journal    
DOI: 10.1016/j.cyto.2013.03.008     Document Type: Article

References (25)

1. Jemec G.B.E. Hidradenitis suppurativa. N Engl J Med 2012, 366:158-164.
2. Onderdijk A.J., van der Zee H.H., Esmann S., Lophaven S., Dufour D.N., Jemec G.B., et al. Depression in patients with hidradenitis suppurativa. J Eur Acad Dermatol Venereol 2012, 10.1111/j.1468-3083.2012.04468.x.
3. Esmann S., Jemec G.B.E. Psychosocial impact of hidradenitis suppurativa: a qualitative study. Acta Derm Venereol 2011, 91:328-332.
4. Giamarellos-Bourboulis E.J., Pelekanou E., Antonopoulou A., Petropoulou H., Baziaka F., Karagianni V., et al. An open-label phase II study of the safety and efficacy of etanercept for the therapy of hidradenitis suppurativa. Br J Dermatol 2008, 158:567-572.
5. van der Zee H.H., van der Woude C.J., Florencia E.F., Prens E.P. Hidradenitis suppurativa and inflammatory bowel disease: are they associated? Results of a pilot study. Br J Dermatol 2010, 162:195-197.
6. Giamarellos-Bourboulis E.J., Antonopoulou A., Petropoulou C., Mouktaroudi M., Spyridaki E., Baziaka F., et al. Altered innate and adaptive immune responses in patients with hidradenitis suppurativa. Br J Dermatol 2007, 156:51-56.
7. van der Zee H.H., de Ruiter L., van den Broecke D.G., Dik W.A., Laman J.D., Prens E.P. Elevated levels of tumour necrosis factor (TNF)-α, interleukin (IL)-1β and IL-10 in hidradenitis suppurativa skin: a rationale for targeting TNF-α and IL-1β. Br J Dermatol 2011, 164:1292-1298.
8. van der Zee H.H., de Ruiter L., Boer J., van den Broecke D.G., den Hollander J.C., Laman J.D., et al. Alterations in leukocyte subsets and histomorphology in normal-appearing perilesional skin and early and chronic hidradenitis suppurativa lesions. Br J Dermatol 2012, 166:98-106.
9. Wang K, Zhang H, Kugathasan S, Annese V, Bradfield JP, Russell RK, Sleiman PM, Imielinski M, Glessner J, Hou C, Wilson DC, Walters T, Kim C, Frackelton EC, Lionetti P, Barabino A, van Limbergen J, Guthery S, Denson L, Piccoli D, Li M, Dubinsky M, Silverberg M, Griffiths A, Grant SF, Satsangi J, Baldassano R, Hakonarson H. Diverse genome-wide association studies associate the IL-12/IL-23 pathway with Crohn disease. Am J Hum Genet 2009;84:399-405.
10. van de Vosse E., van Dissel J.T., Ottenhoff T.H.M. Genetic deficiencies of innate immune signaling in human infectious disease. Lancet Infect Dis 2009, 688-698.
11. von der Werth J.M., Jemec G.B.E. Morbidity in patients with hidradenitis suppurativa. Br J Dermatol 2001, 144:809-813.
12. Revuz J. Hidradenitis suppurativa. J Eur Acad Dermatol Venereol 2009, 23:985-998.
13. Tabone T., Morahan G. Definition of polymorphisms in the gene encoding the interleukin-12 receptor B1 subunit: testing linkage disequilibrium with type I diabetes susceptibility. Genes Immun 2003, 4:222-227.
14. Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 2008, 66:87-98.
15. Akahoshi M., Nakashima H., Miyake K., Inoue Y., Shimizu S., Tanaka Y., et al. Influence of interleukin-12 receptor β1 polymorphisms on tuberculosis. Hum Genet 2003, 112:237-243.
16. Kurzen H., Kurokawa I., Jemec G.B.E., Emtestam L., Sellheyer K., Giamarellos-Bourboulis E.J., et al. What causes hidradenitis suppurativa?. Exp Dermatol 2008, 17:455-472.
17. Liu Y., Gao M., Lv Y., Yang X., Ren Y.Q., Jiang T., et al. Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa). J Invest Dermatol 2011, 131:1570-1572.
18. Al-Ali F.M., Ratnamala U., Mehta T.Y., Naveed M., Al-Ali M.T., Al-Khaja N., et al. Hidradenitis suppurativa (or acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region. Exp Dermatol 2010, 19:851-853.
19. Pink A.E., Simpson M.A., Brice G.W., Smith C.H., Desai N., Mortimer P.S., et al. PSENEN and NCSTN mutations in familial hidradenitis suppurativa (acne inversa). J Invest Dermatol 2011, 131:1568-1570.
20. Gulliver W.P., Jemec G.B.E., Baker K.A. Experience with ustekinumab for the treatment of moderate to severe hidradenitis suppurativa. J Eur Acad Dermatol Venereol 2011, 26:911-914.
21. Sharon V.R., Garcia M.S., Bagheri S., Goodarzi H., Yang C., Ono Y., et al. Management of recalcitrant hidradenitis suppurativa with ustekinumab. Acta Derm Venereol 2012, 92:320-321.
22. Zhang L., Prather D., van der Eng J.V., Crawford S., Kariuki S., ter Kuile F., et al. Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malaria anaemia in children in captial Kenya. Malaria J 2010, 9:87.
23. Kusuhara K., Yamamoto K., Okada K., Mizuno Y., Hara T. Association of IL-12RB1 polymorphisms with susceptibility to and severity of tuberculosis in Japanese: a gene-based association analysis of 21 candidate genes. Int J Immunogenetics 2007, 34:35-44.
24. Namkung J.H., Lee J.E., Kim E., Kim S., Kim S., Shin E.S., et al. Association of single nucleotide polymorphisms in the IL-12 (IL-12A and B) and IL-12 receptor (IL-12Rβ1 and β2) genes and gene-gene interactions with atopic dermatitis in Koreans. J Dermatol Sci 2010, 57:199-206.
25. Takahashi N., Akahoshi M., Matsuda A., Ebe K., Inomata N., Obara K., et al. Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis ad other allergic phenotypes. Hum Mol Genet 2005, 14:3149-3159.